Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.V1512A
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SAMD9L

NM_152703.5:p.V1512A

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_32

New SAMD9L heterozygous mutation leading to myelodysplastic syndrome and acute myeloid leukemia: A case report and review of the literature.

Monagel DA

Cancer Reports (hoboken, N.j.), 2023

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.

Russell AJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA et al.

The Journal of Clinical Investigation, 2020

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Cheah JJC et al.

Haematologica, 2019

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.

Wong JC et al.

Jci Insight, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."